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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFAP1

Variant:p.W125C

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MFAP1

NM_005926.3:p.W125C

hg38:chr15:43814999 C>A

Associated Papers

ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update.

Malcikova J et al.

Leukemia, 2024

38755420 (PubMed )

Supplement: 41375_2024_2267_MOESM1_ESM.pdf

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T et al.

Journal of Medical Genetics, 2011

21037275 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."